Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 1995 2010
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 12 1995 2015
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.060 1.000 6 1997 2007
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.010 1.000 1 2002 2002